Zosia Miedzybrodzka

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Nasim Mavaddat, Susan Peock, Debra Frost et al. · JNCI Journal of the National Cancer Institute · 2013 · 914 citations

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Chey Loveday, Clare Turnbull, Emma Ramsay et al. · Nature Genetics · 2011 · 526 citations · Full text

Genetics, Germline Mutations, Cancer Genetics +2

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 306 citations · Full text

Neurodegenerative Diseases, Altered Phosphate Export, Mendelian Disorder +6

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 256 citations · Full text

Breast Oncology, Cancer Pathology, Tumor Heterogeneity +8

Deregulation of <i>EIF4E</i>: a novel mechanism for autism

Maria Neves-Pereira, Berndt Müller, D Massie et al. · Journal of Medical Genetics · 2009 · 146 citations